ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter) rs121908446 0.00002
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter) rs747737475 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) rs1453590085 0.00001
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys) rs1188070167 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln) rs748925635 0.00001
NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter) rs1178109063 0.00001
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) rs111033570 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val) rs1564482221 0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter) rs780451185 0.00001
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
GRCh37/hg19 2q36.3(chr2:228167754-228169799)
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000082.4(ERCC8):c.481+1G>C rs1580007152
NM_000082.4(ERCC8):c.551-1G>A rs1554073316
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2746+1G>T rs1574786225
NM_000091.5(COL4A3):c.2747-1G>T rs1196996393
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter) rs750308686
NM_000091.5(COL4A3):c.816dup (p.Pro273fs) rs1574701767
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.5(COL4A4):c.3699_3706+1del
NM_000271.5(NPC1):c.3027del (p.Lys1010fs) rs1598942578
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg) rs1598406692
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs) rs1776950897
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.3579del (p.Asp1194fs) rs1554366802
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del) rs777676129
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter) rs1745753552
NM_001134831.2(AHI1):c.2266+1G>A
NM_001378454.1(ALMS1):c.9540-2A>G
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp) rs1028534806
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004407.4(DMP1):c.362del (p.Pro121fs) rs587776696
NM_006208.3(ENPP1):c.2248dup (p.Ser750fs) rs587776797
NM_006208.3(ENPP1):c.2444+702_*868del
NM_006208.3(ENPP1):c.430+1del rs1554278331
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) rs121908248
NM_006397.3(RNASEH2A):c.859T>C (p.Tyr287His)
NM_006618.5(KDM5B):c.2830dup (p.Leu944fs)
NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs) rs1590911156
NM_014028.4(OSTM1):c.783+5G>T rs1554250938
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) rs1473613373
NM_015378.4(VPS13D):c.2020C>T (p.Arg674Ter) rs756025227
NM_016038.4(SBDS):c.18del (p.Thr7fs) rs1584439050
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs) rs2038491713
NM_017807.4(OSGEP):c.839G>A (p.Arg280His) rs144732839
NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter) rs1405576707
NM_018075.5(ANO10):c.1551dup (p.Ala518fs) rs2079693628
NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter) rs1846512047
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) rs1586803063
NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter) rs1572040505
NM_020247.5(COQ8A):c.656-1G>T rs903436781
NM_020964.3(EPG5):c.1501A>T (p.Lys501Ter) rs1203870830
NM_020964.3(EPG5):c.1924C>T (p.Arg642Ter) rs912986968
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln) rs587777445
NM_024057.4(NUP37):c.225dup (p.Asp76Ter) rs1309880692
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024417.5(FDXR):c.332T>C (p.Val111Ala)
NM_024417.5(FDXR):c.564_575del (p.Leu189_Ala192del)
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn) rs2150668444
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025216.3(WNT10A):c.1199G>A (p.Cys400Tyr) rs1575235227
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs) rs1596050297
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA (p.Asn3062fs) rs1582441668
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter) rs1590463470
NM_182961.4(SYNE1):c.15280del (p.Asp5094fs)
NM_182961.4(SYNE1):c.4908C>A (p.Tyr1636Ter) rs771955377
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521

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